248 related articles for article (PubMed ID: 11055586)
1. Acute intermittent porphyria: expression of mutant and wild-type porphobilinogen deaminase in COS-1 cells.
Mustajoki S; Laine M; Lahtela M; Mustajoki P; Peltonen L; Kauppinen R
Mol Med; 2000 Aug; 6(8):670-9. PubMed ID: 11055586
[TBL] [Abstract][Full Text] [Related]
2. Steady-state transcript levels of the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
Mustajoki S; Kauppinen R; Mustajoki P; Suomalainen A; Peltonen L
Genome Res; 1997 Nov; 7(11):1054-60. PubMed ID: 9371741
[TBL] [Abstract][Full Text] [Related]
3. Porphobilinogen deaminase gene mutations in Polish patients with non-erythroid acute intermittent porphyria.
Szlendak U; Lipniacka A; Bianketti J; Podolak-Dawidziak M; Bykowska K
Adv Clin Exp Med; 2015; 24(1):63-8. PubMed ID: 25923088
[TBL] [Abstract][Full Text] [Related]
4. Proteasomal degradation regulates expression of porphobilinogen deaminase (PBGD) mutants of acute intermittent porphyria.
Grünberg-Etkovitz N; Greenbaum L; Grinblat B; Malik Z
Biochim Biophys Acta; 2006 Sep; 1762(9):819-27. PubMed ID: 16935474
[TBL] [Abstract][Full Text] [Related]
5. CRIM-positive mutations of acute intermittent porphyria in Finland.
Kauppinen R; Peltonen L; Pihlaja H; Mustajoki P
Hum Mutat; 1992; 1(5):392-6. PubMed ID: 1301948
[TBL] [Abstract][Full Text] [Related]
6. Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties.
Ulbrichova D; Hrdinka M; Saudek V; Martasek P
FEBS J; 2009 Apr; 276(7):2106-15. PubMed ID: 19292878
[TBL] [Abstract][Full Text] [Related]
7. Clinical and biochemical characteristics and genotype-phenotype correlation in 143 Finnish and Russian patients with acute intermittent porphyria.
Fraunberg MVUZ; Pischik E; Udd L; Kauppinen R
Medicine (Baltimore); 2005 Jan; 84(1):35-47. PubMed ID: 15643298
[TBL] [Abstract][Full Text] [Related]
8. The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study.
Andersson C; Floderus Y; Wikberg A; Lithner F
Scand J Clin Lab Invest; 2000 Nov; 60(7):643-8. PubMed ID: 11202057
[TBL] [Abstract][Full Text] [Related]
9. [Three new mutations in the porphobilinogen deaminase gene, detected in acute intermittent porphyria patients from Russia].
Surin VL; Luk'ianenko AV; Karpova IV; Misiurin AV; Pustovot IaS; Pivnik AV
Genetika; 2001 May; 37(5):690-7. PubMed ID: 11436563
[TBL] [Abstract][Full Text] [Related]
10. Influence of age and gender on the clinical expression of acute intermittent porphyria based on molecular study of porphobilinogen deaminase gene among Swiss patients.
Schuurmans MM; Schneider-Yin X; Rüfenacht UB; Schnyder C; Minder CE; Puy H; Deybach JC; Minder EI
Mol Med; 2001 Aug; 7(8):535-42. PubMed ID: 11591889
[TBL] [Abstract][Full Text] [Related]
11. Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria.
Gregor A; Schneider-Yin X; Szlendak U; Wettstein A; Lipniacka A; Rüfenacht UB; Minder EI
Hum Mutat; 2002 Mar; 19(3):310. PubMed ID: 11857754
[TBL] [Abstract][Full Text] [Related]
12. Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria.
Puy H; Gross U; Deybach JC; Robréau AM; Frank M; Nordmann Y; Doss M
Hum Genet; 1998 Nov; 103(5):570-5. PubMed ID: 9860299
[TBL] [Abstract][Full Text] [Related]
13. Porphobilinogen deaminase over-expression in hepatocytes, but not in erythrocytes, prevents accumulation of toxic porphyrin precursors in a mouse model of acute intermittent porphyria.
Unzu C; Sampedro A; Mauleón I; Vanrell L; Dubrot J; de Salamanca RE; González-Aseguinolaza G; Melero I; Prieto J; Fontanellas A
J Hepatol; 2010 Mar; 52(3):417-24. PubMed ID: 19815305
[TBL] [Abstract][Full Text] [Related]
14. Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M).
De Siervi A; Weiss Cádiz DE; Parera VE; del C Batlle AM; Rossetti MV
Hum Mutat; 2000 Oct; 16(4):373. PubMed ID: 11013452
[TBL] [Abstract][Full Text] [Related]
15. Structural insight into acute intermittent porphyria.
Song G; Li Y; Cheng C; Zhao Y; Gao A; Zhang R; Joachimiak A; Shaw N; Liu ZJ
FASEB J; 2009 Feb; 23(2):396-404. PubMed ID: 18936296
[TBL] [Abstract][Full Text] [Related]
16. Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria.
Ulbrichova D; Schneider-Yin X; Mamet R; Saudek V; Martasek P; Minder EI; Schoenfeld N
Blood Cells Mol Dis; 2009; 42(2):167-73. PubMed ID: 19138865
[TBL] [Abstract][Full Text] [Related]
17. Identification of a prevalent nonsense mutation (W283X) and two novel mutations in the porphobilinogen deaminase gene of Swiss patients with acute intermittent porphyria.
Schneider-Yin X; Bogard C; Rüfenacht UB; Puy H; Nordmann Y; Minder EI; Deybach J
Hum Hered; 2000; 50(4):247-50. PubMed ID: 10782018
[TBL] [Abstract][Full Text] [Related]
18. Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene.
Floderus Y; Shoolingin-Jordan PM; Harper P
Clin Genet; 2002 Oct; 62(4):288-97. PubMed ID: 12372055
[TBL] [Abstract][Full Text] [Related]
19. Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations.
Clavero S; Bishop DF; Haskins ME; Giger U; Kauppinen R; Desnick RJ
Hum Mol Genet; 2010 Feb; 19(4):584-96. PubMed ID: 19934113
[TBL] [Abstract][Full Text] [Related]
20. Acute intermittent porphyria: a single-base deletion and a nonsense mutation in the human hydroxymethylbilane synthase gene, predicting truncations of the enzyme polypeptide.
Lee GY; Astrin KH; Desnick RJ
Am J Med Genet; 1995 Aug; 58(2):155-8. PubMed ID: 8533808
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]